RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions

por Whitford, Whitney, Lehnert, Klaus, Snell, Russell G., Jacobsen, Jessie C.
Publicado 2019

De novo network analysis reveals autism causal genes and developmental links to co-occurring traits

por Miller, Catriona J, Golovina, Evgeniia, Wicker, Joerg S, Jacobsen, Jessie C, O’Sullivan, Justin M
Publicado 2023

Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer

por Whitford, Whitney, Hawkins, Victoria, Moodley, Kriebashne S., Grant, Matthew J., Lehnert, Klaus, Snell, Russell G., Jacobsen, Jessie C.
Publicado 2022

Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans

por Young, Alexander T., Ly, Kien N., Wilson, Callum, Lehnert, Klaus, Snell, Russell G., Reid, Suzanne J., Jacobsen, Jessie C.
Publicado 2018

Loss of Drosophila Coq8 results in impaired survival, locomotor deficits and photoreceptor degeneration

por Hura, Angelia J., Hawley, Hannah R., Tan, Wei Jun, Penny, Rebecca J., Jacobsen, Jessie C., Fitzsimons, Helen L.
Publicado 2022

Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease

por Whitford, Whitney, Hawkins, Isobel, Glamuzina, Emma, Wilson, Francessa, Marshall, Andrew, Ashton, Fern, Love, Donald R., Taylor, Juliet, Hill, Rosamund, Lehnert, Klaus, Snell, Russell G., Jacobsen, Jessie C.
Publicado 2017

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

por Poquérusse, Jessie, Nolan, Melinda, Thorburn, David R., Van Hove, Johan L. K., Friederich, Marisa W., Love, Donald R., Taylor, Juliet, Powell, Christopher A., Minczuk, Michal, Snell, Russell G., Lehnert, Klaus, Glamuzina, Emma, Jacobsen, Jessie C.
Publicado 2023

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

por Jacobsen, Jessie C., Glamuzina, Emma, Taylor, Juliet, Swan, Brendan, Handisides, Shona, Wilson, Callum, Fietz, Michael, van Dijk, Tessa, Appelhof, Bart, Hill, Rosamund, Marks, Rosemary, Love, Donald R., Robertson, Stephen P., Snell, Russell G., Lehnert, Klaus
Publicado 2015

Metabolic disruption identified in the Huntington’s disease transgenic sheep model

por Handley, Renee. R., Reid, Suzanne J., Patassini, Stefano, Rudiger, Skye R., Obolonkin, Vladimir, McLaughlan, Clive. J., Jacobsen, Jessie C., Gusella, James F., MacDonald, Marcy E., Waldvogel, Henry J., Bawden, C. Simon, Faull, Richard L. M., Snell, Russell G.
Publicado 2016

Potential molecular consequences of transgene integration: The R6/2 mouse example

por Jacobsen, Jessie C., Erdin, Serkan, Chiang, Colby, Hanscom, Carrie, Handley, Renee R., Barker, Douglas D., Stortchevoi, Alex, Blumenthal, Ian, Reid, Suzanne J., Snell, Russell G., MacDonald, Marcy E., Morton, A. Jennifer, Ernst, Carl, Gusella, James F., Talkowski, Michael E.
Publicado 2017

Penetrance and expressivity of the R858H CACNA1C variant in a five‐generation pedigree segregating an arrhythmogenic channelopathy

por Gardner, R. J. McKinlay, Crozier, Ian G., Binfield, Alex L., Love, Donald R., Lehnert, Klaus, Gibson, Kate, Lintott, Caroline J., Snell, Russell G., Jacobsen, Jessie C., Jones, Peter P., Waddell‐Smith, Kathryn E., Kennedy, Martin A., Skinner, Jonathan R.
Publicado 2018

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

por Chiang, Colby, Jacobsen, Jessie C., Ernst, Carl, Hanscom, Carrie, Heilbut, Adrian, Blumenthal, Ian, Mills, Ryan E., Kirby, Andrew, Lindgren, Amelia M., Rudiger, Skye R., McLaughlan, Clive J., Bawden, C. Simon, Reid, Suzanne J., Faull, Richard L. M., Snell, Russell G., Hall, Ira M., Shen, Yiping, Ohsumi, Toshiro K., Borowsky, Mark L., Daly, Mark J., Lee, Charles, Morton, Cynthia C., MacDonald, Marcy E., Gusella, James F., Talkowski, Michael E.
Publicado 2012